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Article

Novel mutations of the endothelin-B receptor gene in isolated patients with Hirschsprung's disease.

Human molecular genetics - 1 Mar 1996

Kusafuka T, Wang Y, Puri P

Abstract excerpt

Hirschsprung's disease (HSCR) is characterized by the absence of autonomic ganglion cells in the terminal bowel and is a relatively common cause of intestinal obstruction in the newborn. The incidence of HSCR is estimated to be 1 in 5000 live births. Recently, the endothelin-B receptor (EDNRB) gene has been shown as a susceptibility gene for HSCR by the production of aganglionic colon in mice with a null mutation...

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Source

Identifiers

PMID: 8852658
DOI: 10.1093/hmg/5.3.347

Genes

EDNRB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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